Alpha 1 antitrypsin deficiency: the clinical and physiological features of pulmonary emphysema in subjects homozygous for Pi type Z. A survey by the British Thoracic Association

Br J Dis Chest. 1983 Jan;77(1):14-27. doi: 10.1016/0007-0971(83)90002-5.


Hereditary deficiency of alpha 1 antitrypsin, the main serum inhibitor of proteolytic enzymes is associated with pulmonary emphysema of early onset. A multicentre survey of this disorder was started in 1976 and details of 166 subjects homozygous for the Z phenotype form the main body of this report. There were 126 index cases who were identified through chest clinics and 40 non-index cases who were identified through family studies. The index cases and many of the non-index cases had severe radiological and physiological abnormalities. A history of cigarette smoking had a significant effect upon the prognosis, but sex and occupational exposure to dust or fumes did not. There was a wide variance in lung function even among those who had never smoked.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Bronchitis / complications
  • Dyspnea / complications
  • Environmental Exposure
  • Female
  • Homozygote*
  • Humans
  • Male
  • Middle Aged
  • Phenotype
  • Pulmonary Emphysema / complications
  • Pulmonary Emphysema / genetics*
  • Pulmonary Emphysema / physiopathology
  • Respiratory Function Tests
  • Smoking
  • alpha 1-Antitrypsin Deficiency*